ClinVar Miner

List of variants studied for Dilated Cardiomyopathy, Recessive

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ClinVar version:
Total variants: 739
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HGVS dbSNP gnomAD frequency
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_015164.4(PLEKHM2):c.2148G>A (p.Thr716=) rs3817269 0.34895
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_015164.4(PLEKHM2):c.942-16G>A rs41393951 0.27448
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_015164.4(PLEKHM2):c.95T>C (p.Ile32Thr) rs12091750 0.25159
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
NM_015164.4(PLEKHM2):c.291G>A (p.Leu97=) rs16851970 0.22866
NM_015164.4(PLEKHM2):c.61-7del rs66610224 0.19529
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_015164.4(PLEKHM2):c.1242C>T (p.Ile414=) rs7517033 0.04763
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) rs114601492 0.00882
NM_015164.4(PLEKHM2):c.1084C>G (p.Arg362Gly) rs61738983 0.00778
NM_015164.4(PLEKHM2):c.2211A>G (p.Ala737=) rs116455686 0.00746
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_000363.4(TNNI3):c.-148A>G rs73935313 0.00695
NM_015164.4(PLEKHM2):c.942-3C>T rs138211346 0.00495
NM_015164.4(PLEKHM2):c.561C>T (p.His187=) rs115985482 0.00431
NM_015164.4(PLEKHM2):c.891G>C (p.Glu297Asp) rs61738982 0.00346
NM_015164.4(PLEKHM2):c.1797C>T (p.His599=) rs150750784 0.00309
NM_015164.4(PLEKHM2):c.2329A>G (p.Met777Val) rs181186746 0.00219
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223 0.00192
NM_015164.4(PLEKHM2):c.1060C>T (p.Arg354Cys) rs143372200 0.00175
NM_015164.4(PLEKHM2):c.2228G>A (p.Arg743His) rs200700186 0.00170
NM_015164.4(PLEKHM2):c.2805+19C>T rs116131488 0.00156
NM_015164.4(PLEKHM2):c.432C>T (p.Ser144=) rs201860640 0.00147
NM_015164.4(PLEKHM2):c.942-7G>A rs200670249 0.00146
NM_015164.4(PLEKHM2):c.2209-19G>A rs201270093 0.00144
NM_000363.5(TNNI3):c.-85A>C rs186540595 0.00142
NM_015164.4(PLEKHM2):c.2961C>A (p.Asn987Lys) rs189025469 0.00135
NM_015164.4(PLEKHM2):c.61-7C>T rs76932674 0.00122
NM_015164.4(PLEKHM2):c.2209-14C>T rs189697701 0.00111
NM_015164.4(PLEKHM2):c.1987-18C>T rs377297774 0.00106
NM_000363.5(TNNI3):c.-103C>T rs557391836 0.00102
NM_015164.4(PLEKHM2):c.168-13C>T rs372254087 0.00101
NM_015164.4(PLEKHM2):c.2406G>T (p.Gly802=) rs116565708 0.00093
NM_015164.4(PLEKHM2):c.278-17C>T rs191383513 0.00083
NM_015164.4(PLEKHM2):c.357G>C (p.Leu119=) rs201114976 0.00081
NM_015164.4(PLEKHM2):c.1286G>A (p.Arg429His) rs61739679 0.00075
NM_015164.4(PLEKHM2):c.1986+13C>T rs201099827 0.00058
NM_015164.4(PLEKHM2):c.713-5C>A rs200559886 0.00054
NM_015164.4(PLEKHM2):c.2346G>A (p.Ala782=) rs368873177 0.00051
NM_015164.4(PLEKHM2):c.1357G>A (p.Asp453Asn) rs576329050 0.00050
NM_015164.4(PLEKHM2):c.1165T>G (p.Ser389Ala) rs200354338 0.00043
NM_015164.4(PLEKHM2):c.2067G>A (p.Ala689=) rs371186259 0.00036
NM_015164.4(PLEKHM2):c.162G>A (p.Leu54=) rs199666070 0.00035
NM_015164.4(PLEKHM2):c.1265A>G (p.Asp422Gly) rs376306853 0.00034
NM_015164.4(PLEKHM2):c.1677C>T (p.Ser559=) rs200036096 0.00034
NM_015164.4(PLEKHM2):c.1987-17G>A rs373891163 0.00034
NM_015164.4(PLEKHM2):c.2566G>A (p.Glu856Lys) rs145743094 0.00034
NM_015164.4(PLEKHM2):c.3044G>A (p.Arg1015Gln) rs199904231 0.00032
NM_015164.4(PLEKHM2):c.1221G>A (p.Gly407=) rs558893831 0.00030
NM_015164.4(PLEKHM2):c.1163G>A (p.Arg388His) rs750156567 0.00027
NM_015164.4(PLEKHM2):c.2571C>T (p.Ser857=) rs72647153 0.00023
NM_015164.4(PLEKHM2):c.658G>A (p.Asp220Asn) rs375501738 0.00022
NM_015164.4(PLEKHM2):c.1495G>T (p.Ala499Ser) rs202014397 0.00021
NM_015164.4(PLEKHM2):c.1738A>G (p.Met580Val) rs375845025 0.00021
NM_015164.4(PLEKHM2):c.2823C>G (p.Ser941Arg) rs749682801 0.00021
NM_015164.4(PLEKHM2):c.2949G>A (p.Gln983=) rs369859488 0.00020
NM_015164.4(PLEKHM2):c.153C>T (p.His51=) rs200766805 0.00019
NM_015164.4(PLEKHM2):c.2224G>A (p.Val742Met) rs531140342 0.00019
NM_015164.4(PLEKHM2):c.2586C>T (p.Ala862=) rs372889182 0.00019
NM_015164.4(PLEKHM2):c.306C>T (p.Asn102=) rs778821268 0.00019
NM_015164.4(PLEKHM2):c.2518G>A (p.Ala840Thr) rs199578594 0.00018
NM_015164.4(PLEKHM2):c.745C>T (p.Arg249Cys) rs61738981 0.00018
NM_015164.4(PLEKHM2):c.1115C>T (p.Pro372Leu) rs199741495 0.00016
NM_015164.4(PLEKHM2):c.1921+9C>T rs369417226 0.00015
NM_015164.4(PLEKHM2):c.2481T>C (p.Gly827=) rs1327446268 0.00015
NM_015164.4(PLEKHM2):c.1349C>T (p.Pro450Leu) rs200715563 0.00014
NM_015164.4(PLEKHM2):c.1812C>T (p.Asn604=) rs370851992 0.00014
NM_015164.4(PLEKHM2):c.1967A>G (p.Asn656Ser) rs547769286 0.00014
NM_015164.4(PLEKHM2):c.2971T>C (p.Phe991Leu) rs201091991 0.00014
NM_015164.4(PLEKHM2):c.732G>A (p.Thr244=) rs372990044 0.00014
NM_015164.4(PLEKHM2):c.1338G>A (p.Pro446=) rs766745026 0.00013
NM_015164.4(PLEKHM2):c.820G>A (p.Glu274Lys) rs552932422 0.00013
NM_015164.4(PLEKHM2):c.1050C>T (p.Asp350=) rs370961093 0.00011
NM_015164.4(PLEKHM2):c.1251C>T (p.Leu417=) rs749126712 0.00011
NM_015164.4(PLEKHM2):c.2199G>A (p.Ser733=) rs373219875 0.00011
NM_015164.4(PLEKHM2):c.2766C>T (p.Ser922=) rs199811699 0.00011
NM_015164.4(PLEKHM2):c.278-13C>T rs371787019 0.00011
NM_015164.4(PLEKHM2):c.3035G>A (p.Arg1012Gln) rs533946132 0.00011
NM_015164.4(PLEKHM2):c.858C>T (p.Thr286=) rs763524736 0.00011
NM_015164.4(PLEKHM2):c.909G>A (p.Pro303=) rs753956705 0.00011
NM_015164.4(PLEKHM2):c.3029G>A (p.Arg1010His) rs745963513 0.00010
NM_015164.4(PLEKHM2):c.2465+12G>A rs370100069 0.00009
NM_015164.4(PLEKHM2):c.2530A>T (p.Ile844Phe) rs770529447 0.00009
NM_015164.4(PLEKHM2):c.277+20C>T rs769633582 0.00009
NM_015164.4(PLEKHM2):c.30C>T (p.Ile10=) rs780010080 0.00009
NM_015164.4(PLEKHM2):c.1313G>A (p.Arg438Gln) rs370277036 0.00008
NM_015164.4(PLEKHM2):c.1914C>T (p.Leu638=) rs572679523 0.00008
NM_015164.4(PLEKHM2):c.2265C>T (p.Asp755=) rs370580485 0.00008
NM_015164.4(PLEKHM2):c.51G>A (p.Ser17=) rs370753597 0.00008
NM_015164.4(PLEKHM2):c.815T>C (p.Phe272Ser) rs918240859 0.00008
NM_015164.4(PLEKHM2):c.1470G>A (p.Pro490=) rs371661618 0.00007
NM_015164.4(PLEKHM2):c.1752G>A (p.Ser584=) rs141219063 0.00007
NM_015164.4(PLEKHM2):c.1921+7G>A rs370152002 0.00007
NM_015164.4(PLEKHM2):c.2215G>T (p.Ala739Ser) rs751676919 0.00007
NM_015164.4(PLEKHM2):c.3012G>C (p.Arg1004=) rs754312823 0.00007
NM_015164.4(PLEKHM2):c.541C>T (p.Arg181Cys) rs780487076 0.00007
NM_015164.4(PLEKHM2):c.828G>A (p.Pro276=) rs747984540 0.00007
NM_015164.4(PLEKHM2):c.912G>A (p.Pro304=) rs374305593 0.00007
NM_015164.4(PLEKHM2):c.1085G>A (p.Arg362Gln) rs370612427 0.00006
NM_015164.4(PLEKHM2):c.1255G>A (p.Gly419Arg) rs199522123 0.00006
NM_015164.4(PLEKHM2):c.1346C>T (p.Pro449Leu) rs542799086 0.00006
NM_015164.4(PLEKHM2):c.1438G>A (p.Gly480Ser) rs376758113 0.00006
NM_015164.4(PLEKHM2):c.1957G>A (p.Val653Ile) rs746715478 0.00006
NM_015164.4(PLEKHM2):c.1986+7C>T rs766827340 0.00006
NM_015164.4(PLEKHM2):c.2109C>T (p.Ile703=) rs1172713973 0.00006
NM_015164.4(PLEKHM2):c.2209-7G>A rs528624714 0.00006
NM_015164.4(PLEKHM2):c.2289C>T (p.Cys763=) rs762871052 0.00006
NM_015164.4(PLEKHM2):c.2404G>A (p.Gly802Arg) rs745867909 0.00006
NM_015164.4(PLEKHM2):c.2689C>T (p.Arg897Cys) rs375841573 0.00006
NM_015164.4(PLEKHM2):c.2757C>T (p.Gly919=) rs377066447 0.00006
NM_015164.4(PLEKHM2):c.388G>A (p.Val130Ile) rs550524661 0.00006
NM_015164.4(PLEKHM2):c.461A>T (p.Asp154Val) rs764894986 0.00006
NM_015164.4(PLEKHM2):c.505T>C (p.Tyr169His) rs752340656 0.00006
NM_015164.4(PLEKHM2):c.819C>T (p.Asn273=) rs374011612 0.00006
NM_015164.4(PLEKHM2):c.924G>A (p.Thr308=) rs542980745 0.00006
NM_015164.4(PLEKHM2):c.98C>T (p.Pro33Leu) rs760374432 0.00006
NM_015164.4(PLEKHM2):c.1293G>A (p.Glu431=) rs376029514 0.00005
NM_015164.4(PLEKHM2):c.131G>A (p.Arg44His) rs750819902 0.00005
NM_015164.4(PLEKHM2):c.2676C>T (p.Val892=) rs373165364 0.00005
NM_015164.4(PLEKHM2):c.2700G>A (p.Thr900=) rs763833499 0.00005
NM_015164.4(PLEKHM2):c.2916C>T (p.Ile972=) rs367782869 0.00005
NM_015164.4(PLEKHM2):c.2939C>T (p.Thr980Met) rs571532775 0.00005
NM_015164.4(PLEKHM2):c.333G>A (p.Arg111=) rs776837720 0.00005
NM_015164.4(PLEKHM2):c.501C>T (p.Pro167=) rs759336254 0.00005
NM_015164.4(PLEKHM2):c.631G>A (p.Ala211Thr) rs751230545 0.00005
NM_015164.4(PLEKHM2):c.6G>A (p.Glu2=) rs746122788 0.00005
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463 0.00004
NM_015164.4(PLEKHM2):c.1092G>A (p.Ser364=) rs770053185 0.00004
NM_015164.4(PLEKHM2):c.1158C>T (p.Ser386=) rs372178116 0.00004
NM_015164.4(PLEKHM2):c.1177C>G (p.Leu393Val) rs374197596 0.00004
NM_015164.4(PLEKHM2):c.1214G>A (p.Arg405His) rs369908043 0.00004
NM_015164.4(PLEKHM2):c.1254C>T (p.Asn418=) rs759205632 0.00004
NM_015164.4(PLEKHM2):c.1680G>A (p.Pro560=) rs369446815 0.00004
NM_015164.4(PLEKHM2):c.1733C>T (p.Ser578Leu) rs540693679 0.00004
NM_015164.4(PLEKHM2):c.1848C>T (p.Thr616=) rs375314550 0.00004
NM_015164.4(PLEKHM2):c.2030G>A (p.Arg677His) rs899766875 0.00004
NM_015164.4(PLEKHM2):c.2054C>T (p.Thr685Met) rs1160636602 0.00004
NM_015164.4(PLEKHM2):c.2055G>A (p.Thr685=) rs754304191 0.00004
NM_015164.4(PLEKHM2):c.2076-4G>A rs772810642 0.00004
NM_015164.4(PLEKHM2):c.2235C>T (p.Tyr745=) rs748350290 0.00004
NM_015164.4(PLEKHM2):c.2266G>A (p.Glu756Lys) rs571147456 0.00004
NM_015164.4(PLEKHM2):c.2412C>T (p.Leu804=) rs912422634 0.00004
NM_015164.4(PLEKHM2):c.2434G>A (p.Asp812Asn) rs760046299 0.00004
NM_015164.4(PLEKHM2):c.2454G>A (p.Ser818=) rs753199818 0.00004
NM_015164.4(PLEKHM2):c.2509C>T (p.Arg837Trp) rs374236339 0.00004
NM_015164.4(PLEKHM2):c.2538C>T (p.Ser846=) rs372464687 0.00004
NM_015164.4(PLEKHM2):c.2651G>A (p.Ser884Asn) rs768068764 0.00004
NM_015164.4(PLEKHM2):c.2758G>A (p.Asp920Asn) rs200570089 0.00004
NM_015164.4(PLEKHM2):c.2770G>A (p.Val924Ile) rs754516943 0.00004
NM_015164.4(PLEKHM2):c.3031G>A (p.Gly1011Ser) rs775573162 0.00004
NM_015164.4(PLEKHM2):c.400G>A (p.Asp134Asn) rs373180239 0.00004
NM_015164.4(PLEKHM2):c.502G>A (p.Asp168Asn) rs764949831 0.00004
NM_015164.4(PLEKHM2):c.562G>A (p.Gly188Ser) rs771166429 0.00004
NM_015164.4(PLEKHM2):c.712+15G>A rs751822963 0.00004
NM_015164.4(PLEKHM2):c.746G>A (p.Arg249His) rs765918617 0.00004
NM_015164.4(PLEKHM2):c.760G>A (p.Asp254Asn) rs369874310 0.00004
NM_015164.4(PLEKHM2):c.827C>T (p.Pro276Leu) rs148791341 0.00004
NM_015164.4(PLEKHM2):c.1065C>T (p.Asn355=) rs377142193 0.00003
NM_015164.4(PLEKHM2):c.1110C>T (p.Ala370=) rs547428777 0.00003
NM_015164.4(PLEKHM2):c.1341G>C (p.Glu447Asp) rs368687150 0.00003
NM_015164.4(PLEKHM2):c.1397G>A (p.Arg466His) rs1414192320 0.00003
NM_015164.4(PLEKHM2):c.1437C>T (p.Gly479=) rs983530335 0.00003
NM_015164.4(PLEKHM2):c.1543C>T (p.Arg515Trp) rs747848774 0.00003
NM_015164.4(PLEKHM2):c.165C>T (p.Tyr55=) rs376237330 0.00003
NM_015164.4(PLEKHM2):c.1734G>A (p.Ser578=) rs767726429 0.00003
NM_015164.4(PLEKHM2):c.1956C>T (p.Ala652=) rs373293972 0.00003
NM_015164.4(PLEKHM2):c.1976A>G (p.Asp659Gly) rs775027447 0.00003
NM_015164.4(PLEKHM2):c.2182T>C (p.Phe728Leu) rs761820612 0.00003
NM_015164.4(PLEKHM2):c.2292C>T (p.His764=) rs763769257 0.00003
NM_015164.4(PLEKHM2):c.2332C>T (p.Leu778=) rs370220957 0.00003
NM_015164.4(PLEKHM2):c.2389G>A (p.Val797Met) rs1453645890 0.00003
NM_015164.4(PLEKHM2):c.2690G>A (p.Arg897His) rs369377320 0.00003
NM_015164.4(PLEKHM2):c.2828A>G (p.Gln943Arg) rs761674764 0.00003
NM_015164.4(PLEKHM2):c.3021T>C (p.Ser1007=) rs571509661 0.00003
NM_015164.4(PLEKHM2):c.377+7G>A rs751725867 0.00003
NM_015164.4(PLEKHM2):c.411G>A (p.Thr137=) rs894960452 0.00003
NM_015164.4(PLEKHM2):c.554C>T (p.Ser185Leu) rs748388504 0.00003
NM_015164.4(PLEKHM2):c.632C>T (p.Ala211Val) rs373741350 0.00003
NM_015164.4(PLEKHM2):c.830C>A (p.Ala277Glu) rs555141596 0.00003
NM_015164.4(PLEKHM2):c.831A>G (p.Ala277=) rs533457525 0.00003
NM_015164.4(PLEKHM2):c.861C>T (p.Pro287=) rs142442267 0.00003
NM_015164.4(PLEKHM2):c.862G>A (p.Val288Met) rs764750661 0.00003
NM_015164.4(PLEKHM2):c.942-19C>G rs578031030 0.00003
NM_015164.4(PLEKHM2):c.1015G>A (p.Ala339Thr) rs1047914096 0.00002
NM_015164.4(PLEKHM2):c.1116C>G (p.Pro372=) rs567266704 0.00002
NM_015164.4(PLEKHM2):c.1149G>A (p.Thr383=) rs768763484 0.00002
NM_015164.4(PLEKHM2):c.1203C>G (p.Thr401=) rs780336784 0.00002
NM_015164.4(PLEKHM2):c.1213C>T (p.Arg405Cys) rs749518615 0.00002
NM_015164.4(PLEKHM2):c.1555G>T (p.Asp519Tyr) rs770377384 0.00002
NM_015164.4(PLEKHM2):c.1921+10G>A rs780341451 0.00002
NM_015164.4(PLEKHM2):c.1969G>A (p.Glu657Lys) rs759249900 0.00002
NM_015164.4(PLEKHM2):c.1986+16G>A rs758536871 0.00002
NM_015164.4(PLEKHM2):c.2076-8C>T rs763274431 0.00002
NM_015164.4(PLEKHM2):c.2090C>G (p.Ser697Cys) rs1476472457 0.00002
NM_015164.4(PLEKHM2):c.2147C>T (p.Thr716Met) rs777263405 0.00002
NM_015164.4(PLEKHM2):c.2209-8C>T rs1046746966 0.00002
NM_015164.4(PLEKHM2):c.2222C>A (p.Thr741Asn) rs568623962 0.00002
NM_015164.4(PLEKHM2):c.2283G>A (p.Thr761=) rs765057027 0.00002
NM_015164.4(PLEKHM2):c.241G>A (p.Glu81Lys) rs867591890 0.00002
NM_015164.4(PLEKHM2):c.2424G>A (p.Pro808=) rs368725345 0.00002
NM_015164.4(PLEKHM2):c.2433C>T (p.Thr811=) rs772926237 0.00002
NM_015164.4(PLEKHM2):c.2437G>A (p.Val813Ile) rs373111686 0.00002
NM_015164.4(PLEKHM2):c.2535C>G (p.Leu845=) rs368350011 0.00002
NM_015164.4(PLEKHM2):c.2626-10C>G rs1186234870 0.00002
NM_015164.4(PLEKHM2):c.2641G>A (p.Val881Ile) rs748768806 0.00002
NM_015164.4(PLEKHM2):c.2802C>T (p.Val934=) rs774362020 0.00002
NM_015164.4(PLEKHM2):c.2897A>C (p.Asn966Thr) rs149249024 0.00002
NM_015164.4(PLEKHM2):c.2922+3A>G rs2068164567 0.00002
NM_015164.4(PLEKHM2):c.3032G>T (p.Gly1011Val) rs748976518 0.00002
NM_015164.4(PLEKHM2):c.372C>T (p.Tyr124=) rs763178454 0.00002
NM_015164.4(PLEKHM2):c.399C>T (p.His133=) rs570703770 0.00002
NM_015164.4(PLEKHM2):c.449G>A (p.Arg150His) rs753728158 0.00002
NM_015164.4(PLEKHM2):c.540C>T (p.Asp180=) rs756588992 0.00002
NM_015164.4(PLEKHM2):c.598G>A (p.Val200Ile) rs775218720 0.00002
NM_015164.4(PLEKHM2):c.606C>T (p.Ser202=) rs762559192 0.00002
NM_015164.4(PLEKHM2):c.687G>A (p.Pro229=) rs765614073 0.00002
NM_015164.4(PLEKHM2):c.765G>C (p.Leu255=) rs764552863 0.00002
NM_015164.4(PLEKHM2):c.783C>T (p.Ser261=) rs1199044725 0.00002
NM_015164.4(PLEKHM2):c.809A>G (p.Asn270Ser) rs1427860287 0.00002
NM_015164.4(PLEKHM2):c.942-17C>T rs937970088 0.00002
NM_015164.4(PLEKHM2):c.981C>T (p.Ser327=) rs751424826 0.00002
NM_001079802.2(FKTN):c.*324G>C rs536822992 0.00001
NM_015164.4(PLEKHM2):c.1005A>G (p.Pro335=) rs1238231841 0.00001
NM_015164.4(PLEKHM2):c.1091C>T (p.Ser364Leu) rs375548142 0.00001
NM_015164.4(PLEKHM2):c.1117C>G (p.Gln373Glu) rs778344771 0.00001
NM_015164.4(PLEKHM2):c.1118A>G (p.Gln373Arg) rs1263111211 0.00001
NM_015164.4(PLEKHM2):c.1148C>T (p.Thr383Met) rs749482191 0.00001
NM_015164.4(PLEKHM2):c.1159G>A (p.Glu387Lys) rs376491799 0.00001
NM_015164.4(PLEKHM2):c.1172C>T (p.Pro391Leu) rs764775012 0.00001
NM_015164.4(PLEKHM2):c.1285C>T (p.Arg429Cys) rs750912985 0.00001
NM_015164.4(PLEKHM2):c.1312C>T (p.Arg438Trp) rs772221050 0.00001
NM_015164.4(PLEKHM2):c.1320C>T (p.Gly440=) rs776655442 0.00001
NM_015164.4(PLEKHM2):c.1325C>G (p.Pro442Arg) rs762656151 0.00001
NM_015164.4(PLEKHM2):c.1330G>T (p.Asp444Tyr) rs773770696 0.00001
NM_015164.4(PLEKHM2):c.1350G>A (p.Pro450=) rs777978801 0.00001
NM_015164.4(PLEKHM2):c.1379C>T (p.Ala460Val) rs1242744565 0.00001
NM_015164.4(PLEKHM2):c.1410G>A (p.Glu470=) rs1320576929 0.00001
NM_015164.4(PLEKHM2):c.1538C>T (p.Thr513Met) rs373517149 0.00001
NM_015164.4(PLEKHM2):c.1661A>G (p.Lys554Arg) rs753778128 0.00001
NM_015164.4(PLEKHM2):c.1663C>T (p.Arg555Ter) rs1377708613 0.00001
NM_015164.4(PLEKHM2):c.1671G>T (p.Gln557His) rs373878060 0.00001
NM_015164.4(PLEKHM2):c.1760+10C>T rs1281223984 0.00001
NM_015164.4(PLEKHM2):c.1831-10C>T rs750051545 0.00001
NM_015164.4(PLEKHM2):c.1831-6C>T rs755595683 0.00001
NM_015164.4(PLEKHM2):c.1833G>T (p.Met611Ile) rs758944920 0.00001
NM_015164.4(PLEKHM2):c.1837C>T (p.Arg613Trp) rs778088672 0.00001
NM_015164.4(PLEKHM2):c.1849G>A (p.Gly617Arg) rs746131818 0.00001
NM_015164.4(PLEKHM2):c.1881C>T (p.Tyr627=) rs750079183 0.00001
NM_015164.4(PLEKHM2):c.1882G>A (p.Val628Met) rs199779846 0.00001
NM_015164.4(PLEKHM2):c.1884G>T (p.Val628=) rs376073436 0.00001
NM_015164.4(PLEKHM2):c.189C>A (p.Gly63=) rs755254385 0.00001
NM_015164.4(PLEKHM2):c.1915C>T (p.Arg639Trp) rs1352162718 0.00001
NM_015164.4(PLEKHM2):c.1921+15C>T rs768864522 0.00001
NM_015164.4(PLEKHM2):c.1921+6C>T rs1451525606 0.00001
NM_015164.4(PLEKHM2):c.1922-3C>T rs1329030614 0.00001
NM_015164.4(PLEKHM2):c.1985C>T (p.Ser662Leu) rs778617942 0.00001
NM_015164.4(PLEKHM2):c.2032A>C (p.Arg678=) rs577044690 0.00001
NM_015164.4(PLEKHM2):c.2045T>C (p.Leu682Pro) rs2068105572 0.00001
NM_015164.4(PLEKHM2):c.205G>A (p.Val69Met) rs765299409 0.00001
NM_015164.4(PLEKHM2):c.2066C>T (p.Ala689Val) rs545971251 0.00001
NM_015164.4(PLEKHM2):c.2075+20C>T rs1469594572 0.00001
NM_015164.4(PLEKHM2):c.2076-6A>G rs571394304 0.00001
NM_015164.4(PLEKHM2):c.2135C>T (p.Pro712Leu) rs771712474 0.00001
NM_015164.4(PLEKHM2):c.2190C>T (p.Ala730=) rs1052497156 0.00001
NM_015164.4(PLEKHM2):c.2209-13G>A rs753725638 0.00001
NM_015164.4(PLEKHM2):c.2227C>T (p.Arg743Cys) rs769063819 0.00001
NM_015164.4(PLEKHM2):c.2256C>T (p.Asp752=) rs1474166298 0.00001
NM_015164.4(PLEKHM2):c.2267A>T (p.Glu756Val) rs2068127720 0.00001
NM_015164.4(PLEKHM2):c.2282C>T (p.Thr761Met) rs570032250 0.00001
NM_015164.4(PLEKHM2):c.2310C>T (p.Gly770=) rs971030462 0.00001
NM_015164.4(PLEKHM2):c.2370A>G (p.Glu790=) rs1449876649 0.00001
NM_015164.4(PLEKHM2):c.2428C>T (p.Arg810Cys) rs761692683 0.00001
NM_015164.4(PLEKHM2):c.2458A>C (p.Asn820His) rs534045338 0.00001
NM_015164.4(PLEKHM2):c.2461A>G (p.Met821Val) rs1453093500 0.00001
NM_015164.4(PLEKHM2):c.2466-9C>G rs764517535 0.00001
NM_015164.4(PLEKHM2):c.2483G>A (p.Gly828Asp) rs750577757 0.00001
NM_015164.4(PLEKHM2):c.2510G>A (p.Arg837Gln) rs1325122392 0.00001
NM_015164.4(PLEKHM2):c.2532T>C (p.Ile844=) rs776268014 0.00001
NM_015164.4(PLEKHM2):c.2572G>A (p.Glu858Lys) rs555840819 0.00001
NM_015164.4(PLEKHM2):c.2578G>A (p.Glu860Lys) rs770725489 0.00001
NM_015164.4(PLEKHM2):c.2587G>A (p.Glu863Lys) rs1412158115 0.00001
NM_015164.4(PLEKHM2):c.2625+10G>A rs766912438 0.00001
NM_015164.4(PLEKHM2):c.2626-8G>A rs745495220 0.00001
NM_015164.4(PLEKHM2):c.2626-9C>T rs781002125 0.00001
NM_015164.4(PLEKHM2):c.2626G>T (p.Val876Phe) rs1464968857 0.00001
NM_015164.4(PLEKHM2):c.2679C>T (p.Leu893=) rs1465061757 0.00001
NM_015164.4(PLEKHM2):c.2699C>T (p.Thr900Met) rs765432354 0.00001
NM_015164.4(PLEKHM2):c.2713T>C (p.Cys905Arg) rs372585673 0.00001
NM_015164.4(PLEKHM2):c.2724C>T (p.Ser908=) rs1302127891 0.00001
NM_015164.4(PLEKHM2):c.2731C>T (p.Arg911Cys) rs1316562875 0.00001
NM_015164.4(PLEKHM2):c.274C>T (p.Arg92Cys) rs886757579 0.00001
NM_015164.4(PLEKHM2):c.2783C>T (p.Pro928Leu) rs1290176281 0.00001
NM_015164.4(PLEKHM2):c.2799C>T (p.Cys933=) rs552345005 0.00001
NM_015164.4(PLEKHM2):c.2805+13T>C rs1557664395 0.00001
NM_015164.4(PLEKHM2):c.2806-2A>G rs1447936371 0.00001
NM_015164.4(PLEKHM2):c.282T>A (p.Arg94=) rs1029663243 0.00001
NM_015164.4(PLEKHM2):c.2833C>T (p.Leu945Phe) rs535480952 0.00001
NM_015164.4(PLEKHM2):c.2838G>A (p.Pro946=) rs188910942 0.00001
NM_015164.4(PLEKHM2):c.2920C>A (p.Gln974Lys) rs756525436 0.00001
NM_015164.4(PLEKHM2):c.2922+13C>T rs1327536351 0.00001
NM_015164.4(PLEKHM2):c.2923-12G>A rs1230599995 0.00001
NM_015164.4(PLEKHM2):c.2923-9C>T rs770736460 0.00001
NM_015164.4(PLEKHM2):c.2974G>A (p.Glu992Lys) rs369250576 0.00001
NM_015164.4(PLEKHM2):c.2980G>T (p.Ala994Ser) rs2068185103 0.00001
NM_015164.4(PLEKHM2):c.3000C>T (p.Ser1000=) rs763585907 0.00001
NM_015164.4(PLEKHM2):c.3001G>A (p.Ala1001Thr) rs1448543905 0.00001
NM_015164.4(PLEKHM2):c.3010C>T (p.Arg1004Trp) rs767576522 0.00001
NM_015164.4(PLEKHM2):c.3043C>T (p.Arg1015Ter) rs61738980 0.00001
NM_015164.4(PLEKHM2):c.373G>A (p.Val125Ile) rs764064755 0.00001
NM_015164.4(PLEKHM2):c.423C>T (p.Thr141=) rs947019197 0.00001
NM_015164.4(PLEKHM2):c.460G>T (p.Asp154Tyr) rs939394495 0.00001
NM_015164.4(PLEKHM2):c.465+10C>T rs1290066435 0.00001
NM_015164.4(PLEKHM2):c.466-10C>G rs961545436 0.00001
NM_015164.4(PLEKHM2):c.590T>G (p.Phe197Cys) rs1196866843 0.00001
NM_015164.4(PLEKHM2):c.61-18T>C rs982890901 0.00001
NM_015164.4(PLEKHM2):c.642A>G (p.Pro214=) rs754313190 0.00001
NM_015164.4(PLEKHM2):c.653-5T>C rs773922799 0.00001
NM_015164.4(PLEKHM2):c.686C>T (p.Pro229Leu) rs1337397914 0.00001
NM_015164.4(PLEKHM2):c.712G>A (p.Asp238Asn) rs2067996105 0.00001
NM_015164.4(PLEKHM2):c.714T>C (p.Asp238=) rs1484233281 0.00001
NM_015164.4(PLEKHM2):c.754G>A (p.Ala252Thr) rs551226298 0.00001
NM_015164.4(PLEKHM2):c.759C>T (p.Ser253=) rs1260718176 0.00001
NM_015164.4(PLEKHM2):c.803G>A (p.Arg268His) rs540176774 0.00001
NM_015164.4(PLEKHM2):c.839T>C (p.Val280Ala) rs1367075387 0.00001
NM_015164.4(PLEKHM2):c.840G>A (p.Val280=) rs916422947 0.00001
NM_015164.4(PLEKHM2):c.890A>C (p.Glu297Ala) rs750549299 0.00001
NM_015164.4(PLEKHM2):c.892G>A (p.Ala298Thr) rs1161474873 0.00001
NM_015164.4(PLEKHM2):c.8C>T (p.Pro3Leu) rs866837651 0.00001
NM_015164.4(PLEKHM2):c.911C>T (p.Pro304Leu) rs1053888190 0.00001
NM_015164.4(PLEKHM2):c.914A>T (p.Asp305Val) rs758071508 0.00001
NM_015164.4(PLEKHM2):c.931G>A (p.Glu311Lys) rs772148348 0.00001
NM_015164.4(PLEKHM2):c.941+6C>T rs1170781688 0.00001
NC_000001.10:g.(?_16011044)_(16060439_?)dup
NC_000001.10:g.(?_16042712)_(16060429_?)dup
NC_000001.10:g.(?_16042722)_(16060439_?)dup
NC_000001.10:g.(?_16057007)_(16060429_?)dup
NC_000001.10:g.(?_16058407)_(16059004_?)del
NC_000001.11:g.(?_15731879)_(15732738_?)del
NM_000363.5(TNNI3):c.-133G>T rs886054636
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.157C>T (p.Leu53=) rs763981651
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_015164.4(PLEKHM2):c.1017C>G (p.Ala339=)
NM_015164.4(PLEKHM2):c.101C>T (p.Ala34Val)
NM_015164.4(PLEKHM2):c.1021A>C (p.Ser341Arg) rs886205223
NM_015164.4(PLEKHM2):c.1036G>T (p.Ala346Ser)
NM_015164.4(PLEKHM2):c.1047G>T (p.Gly349=) rs1295574333
NM_015164.4(PLEKHM2):c.1048G>T (p.Asp350Tyr)
NM_015164.4(PLEKHM2):c.1051G>A (p.Gly351Ser) rs759813805
NM_015164.4(PLEKHM2):c.1052_1097del (p.Gly351fs) rs2068073260
NM_015164.4(PLEKHM2):c.1061G>A (p.Arg354His)
NM_015164.4(PLEKHM2):c.1061G>C (p.Arg354Pro) rs751121316
NM_015164.4(PLEKHM2):c.1061G>T (p.Arg354Leu) rs751121316
NM_015164.4(PLEKHM2):c.1061_1063dup (p.Arg354_Asn355insSer) rs2068073520
NM_015164.4(PLEKHM2):c.1065C>A (p.Asn355Lys) rs377142193
NM_015164.4(PLEKHM2):c.1065C>G (p.Asn355Lys) rs377142193
NM_015164.4(PLEKHM2):c.1066G>A (p.Gly356Ser)
NM_015164.4(PLEKHM2):c.106C>T (p.Arg36Trp)
NM_015164.4(PLEKHM2):c.1075A>G (p.Ser359Gly)
NM_015164.4(PLEKHM2):c.1078C>T (p.Leu360Phe)
NM_015164.4(PLEKHM2):c.1084C>T (p.Arg362Trp) rs61738983
NM_015164.4(PLEKHM2):c.1085G>T (p.Arg362Leu)
NM_015164.4(PLEKHM2):c.1085_1105del (p.Arg362_Met368del)
NM_015164.4(PLEKHM2):c.1090_1098del (p.Ser364_Asp366del)
NM_015164.4(PLEKHM2):c.1095_1112dup (p.Ser371_Pro372insAspThrMetLeuAlaSer)
NM_015164.4(PLEKHM2):c.1100C>G (p.Thr367Ser) rs774282688
NM_015164.4(PLEKHM2):c.1104G>A (p.Met368Ile)
NM_015164.4(PLEKHM2):c.1112C>A (p.Ser371Tyr)
NM_015164.4(PLEKHM2):c.1115C>G (p.Pro372Arg)
NM_015164.4(PLEKHM2):c.1117C>A (p.Gln373Lys)
NM_015164.4(PLEKHM2):c.111C>G (p.Asn37Lys) rs1641444723
NM_015164.4(PLEKHM2):c.1136C>T (p.Pro379Leu)
NM_015164.4(PLEKHM2):c.1137G>A (p.Pro379=) rs2148371752
NM_015164.4(PLEKHM2):c.1151A>G (p.Glu384Gly)
NM_015164.4(PLEKHM2):c.1159G>C (p.Glu387Gln) rs376491799
NM_015164.4(PLEKHM2):c.1167C>T (p.Ser389=) rs372659037
NM_015164.4(PLEKHM2):c.1168G>A (p.Glu390Lys)
NM_015164.4(PLEKHM2):c.1173G>A (p.Pro391=) rs376636032
NM_015164.4(PLEKHM2):c.1176C>T (p.Gly392=)
NM_015164.4(PLEKHM2):c.1185C>T (p.Ile395=) rs1198794133
NM_015164.4(PLEKHM2):c.1187del (p.Pro396fs)
NM_015164.4(PLEKHM2):c.1206C>A (p.Ser402=)
NM_015164.4(PLEKHM2):c.1215C>T (p.Arg405=)
NM_015164.4(PLEKHM2):c.1218G>A (p.Leu406=)
NM_015164.4(PLEKHM2):c.1254C>A (p.Asn418Lys)
NM_015164.4(PLEKHM2):c.1256G>A (p.Gly419Glu)
NM_015164.4(PLEKHM2):c.1262T>C (p.Leu421Pro)
NM_015164.4(PLEKHM2):c.1267C>T (p.Pro423Ser)
NM_015164.4(PLEKHM2):c.126A>C (p.Leu42=) rs201343557
NM_015164.4(PLEKHM2):c.1284C>T (p.Ser428=) rs2148372087
NM_015164.4(PLEKHM2):c.1296C>T (p.Pro432=) rs1311897357
NM_015164.4(PLEKHM2):c.1301A>T (p.Asp434Val)
NM_015164.4(PLEKHM2):c.1303C>A (p.Gln435Lys) rs748386047
NM_015164.4(PLEKHM2):c.1314G>T (p.Arg438=)
NM_015164.4(PLEKHM2):c.1317_1318delinsAT (p.Gly440Cys)
NM_015164.4(PLEKHM2):c.1322C>G (p.Ser441Cys) rs373711687
NM_015164.4(PLEKHM2):c.1322C>T (p.Ser441Phe) rs373711687
NM_015164.4(PLEKHM2):c.1326C>T (p.Pro442=)
NM_015164.4(PLEKHM2):c.1327G>A (p.Gly443Arg)
NM_015164.4(PLEKHM2):c.1337C>T (p.Pro446Leu)
NM_015164.4(PLEKHM2):c.133C>T (p.Leu45=)
NM_015164.4(PLEKHM2):c.1344G>T (p.Arg448Ser)
NM_015164.4(PLEKHM2):c.1347G>A (p.Pro449=) rs1257493374
NM_015164.4(PLEKHM2):c.134T>C (p.Leu45Pro)
NM_015164.4(PLEKHM2):c.1356C>T (p.Cys452=)
NM_015164.4(PLEKHM2):c.1384A>G (p.Met462Val)
NM_015164.4(PLEKHM2):c.1384A>T (p.Met462Leu)
NM_015164.4(PLEKHM2):c.1396C>T (p.Arg466Cys)
NM_015164.4(PLEKHM2):c.139G>A (p.Glu47Lys) rs2148357243
NM_015164.4(PLEKHM2):c.1405G>A (p.Val469Ile) rs748904369
NM_015164.4(PLEKHM2):c.1407C>T (p.Val469=)
NM_015164.4(PLEKHM2):c.1408G>A (p.Glu470Lys)
NM_015164.4(PLEKHM2):c.1411A>G (p.Ser471Gly)
NM_015164.4(PLEKHM2):c.1418_1419delinsAT (p.Ser473Asn) rs1571067317
NM_015164.4(PLEKHM2):c.142C>A (p.His48Asn)
NM_015164.4(PLEKHM2):c.1469C>A (p.Pro490Gln) rs368020288
NM_015164.4(PLEKHM2):c.1470G>T (p.Pro490=)
NM_015164.4(PLEKHM2):c.14A>T (p.Glu5Val) rs769845310
NM_015164.4(PLEKHM2):c.1506AGA[2] (p.Glu505del) rs1345388703
NM_015164.4(PLEKHM2):c.1515G>A (p.Glu505=)
NM_015164.4(PLEKHM2):c.1517G>A (p.Gly506Glu)
NM_015164.4(PLEKHM2):c.1538C>A (p.Thr513Lys)
NM_015164.4(PLEKHM2):c.1538C>G (p.Thr513Arg)
NM_015164.4(PLEKHM2):c.1539G>A (p.Thr513=)
NM_015164.4(PLEKHM2):c.1548C>T (p.Pro516=) rs1410933413
NM_015164.4(PLEKHM2):c.1556A>T (p.Asp519Val)
NM_015164.4(PLEKHM2):c.1577_2399+159del
NM_015164.4(PLEKHM2):c.1593G>C (p.Leu531=)
NM_015164.4(PLEKHM2):c.159G>A (p.Leu53=) rs777517195
NM_015164.4(PLEKHM2):c.1623G>T (p.Glu541Asp)
NM_015164.4(PLEKHM2):c.1627G>C (p.Glu543Gln) rs1557660279
NM_015164.4(PLEKHM2):c.1629G>A (p.Glu543=)
NM_015164.4(PLEKHM2):c.162G>C (p.Leu54=) rs199666070
NM_015164.4(PLEKHM2):c.1640A>G (p.Gln547Arg) rs762166145
NM_015164.4(PLEKHM2):c.1664G>A (p.Arg555Gln) rs754709565
NM_015164.4(PLEKHM2):c.167+19C>G
NM_015164.4(PLEKHM2):c.1671G>A (p.Gln557=)
NM_015164.4(PLEKHM2):c.1679C>T (p.Pro560Leu)
NM_015164.4(PLEKHM2):c.168-20C>G
NM_015164.4(PLEKHM2):c.1705G>A (p.Gly569Arg) rs2148373073
NM_015164.4(PLEKHM2):c.1706G>C (p.Gly569Ala) rs1557660418
NM_015164.4(PLEKHM2):c.1739T>C (p.Met580Thr)
NM_015164.4(PLEKHM2):c.1741G>A (p.Val581Ile)
NM_015164.4(PLEKHM2):c.1760+12_1760+13del
NM_015164.4(PLEKHM2):c.1760+18C>T
NM_015164.4(PLEKHM2):c.1760+1G>C rs112106313
NM_015164.4(PLEKHM2):c.1760+20G>A
NM_015164.4(PLEKHM2):c.176A>T (p.Asp59Val) rs2148357683
NM_015164.4(PLEKHM2):c.1775A>G (p.His592Arg)
NM_015164.4(PLEKHM2):c.177C>A (p.Asp59Glu)
NM_015164.4(PLEKHM2):c.1791G>A (p.Met597Ile)
NM_015164.4(PLEKHM2):c.1798G>A (p.Val600Met)
NM_015164.4(PLEKHM2):c.1805G>A (p.Arg602Gln)
NM_015164.4(PLEKHM2):c.1830+17C>T
NM_015164.4(PLEKHM2):c.1830+8C>T
NM_015164.4(PLEKHM2):c.1831-3C>T rs562966267
NM_015164.4(PLEKHM2):c.1837C>G (p.Arg613Gly) rs778088672
NM_015164.4(PLEKHM2):c.1838G>A (p.Arg613Gln)
NM_015164.4(PLEKHM2):c.1845C>T (p.Ser615=)
NM_015164.4(PLEKHM2):c.1847C>T (p.Thr616Ile) rs1260363265
NM_015164.4(PLEKHM2):c.1849G>T (p.Gly617Trp)
NM_015164.4(PLEKHM2):c.1855A>G (p.Met619Val)
NM_015164.4(PLEKHM2):c.1860G>A (p.Glu620=)
NM_015164.4(PLEKHM2):c.1876C>G (p.Leu626Val)
NM_015164.4(PLEKHM2):c.1878G>A (p.Leu626=)
NM_015164.4(PLEKHM2):c.1885C>G (p.Leu629Val)
NM_015164.4(PLEKHM2):c.1901A>G (p.Tyr634Cys)
NM_015164.4(PLEKHM2):c.1908C>T (p.Tyr636=)
NM_015164.4(PLEKHM2):c.1916G>A (p.Arg639Gln)
NM_015164.4(PLEKHM2):c.1921+16G>A
NM_015164.4(PLEKHM2):c.1922-14G>A
NM_015164.4(PLEKHM2):c.1942C>G (p.Leu648Val)
NM_015164.4(PLEKHM2):c.1975G>T (p.Asp659Tyr) rs2148374720
NM_015164.4(PLEKHM2):c.1980T>C (p.Tyr660=)
NM_015164.4(PLEKHM2):c.1986+10G>C
NM_015164.4(PLEKHM2):c.1986+15C>G
NM_015164.4(PLEKHM2):c.1986+15C>T
NM_015164.4(PLEKHM2):c.1986G>A (p.Ser662=) rs750948403
NM_015164.4(PLEKHM2):c.1999C>A (p.Gln667Lys)
NM_015164.4(PLEKHM2):c.2006C>T (p.Thr669Met)
NM_015164.4(PLEKHM2):c.2007G>A (p.Thr669=) rs1281335178
NM_015164.4(PLEKHM2):c.2023A>G (p.Thr675Ala) rs2148375396
NM_015164.4(PLEKHM2):c.2029C>T (p.Arg677Cys)
NM_015164.4(PLEKHM2):c.2031C>A (p.Arg677=) rs2148375415
NM_015164.4(PLEKHM2):c.2071G>T (p.Ala691Ser)
NM_015164.4(PLEKHM2):c.2075+15C>T
NM_015164.4(PLEKHM2):c.2076-14C>T
NM_015164.4(PLEKHM2):c.2076-16C>T
NM_015164.4(PLEKHM2):c.2102C>T (p.Ala701Val) rs2068114434
NM_015164.4(PLEKHM2):c.2109del (p.Gly705fs) rs1553161364
NM_015164.4(PLEKHM2):c.2126C>T (p.Pro709Leu) rs747656902
NM_015164.4(PLEKHM2):c.2133C>T (p.Tyr711=)
NM_015164.4(PLEKHM2):c.2139C>T (p.Ser713=) rs2148376532
NM_015164.4(PLEKHM2):c.2142C>T (p.Ile714=)
NM_015164.4(PLEKHM2):c.2144T>C (p.Leu715Pro) rs1557661974
NM_015164.4(PLEKHM2):c.2151T>G (p.Asp717Glu) rs2068115318
NM_015164.4(PLEKHM2):c.2158A>G (p.Met720Val)
NM_015164.4(PLEKHM2):c.217C>T (p.Arg73Trp) rs778698313
NM_015164.4(PLEKHM2):c.218G>A (p.Arg73Gln)
NM_015164.4(PLEKHM2):c.2193A>C (p.Gln731His)
NM_015164.4(PLEKHM2):c.2198C>T (p.Ser733Leu)
NM_015164.4(PLEKHM2):c.219_220insCTCTCCGA (p.Arg74fs)
NM_015164.4(PLEKHM2):c.2208+11G>C
NM_015164.4(PLEKHM2):c.2208+9C>G
NM_015164.4(PLEKHM2):c.2230T>G (p.Phe744Val)
NM_015164.4(PLEKHM2):c.2238C>T (p.Gly746=)
NM_015164.4(PLEKHM2):c.2239C>T (p.Leu747Phe) rs2068127084
NM_015164.4(PLEKHM2):c.2247C>T (p.His749=)
NM_015164.4(PLEKHM2):c.2255A>G (p.Asp752Gly) rs2148378112
NM_015164.4(PLEKHM2):c.2289C>A (p.Cys763Ter) rs762871052
NM_015164.4(PLEKHM2):c.228C>T (p.Ala76=) rs2148357749
NM_015164.4(PLEKHM2):c.2293T>C (p.Cys765Arg)
NM_015164.4(PLEKHM2):c.22G>A (p.Asp8Asn)
NM_015164.4(PLEKHM2):c.2302C>A (p.Pro768Thr) rs754341890
NM_015164.4(PLEKHM2):c.2302C>T (p.Pro768Ser)
NM_015164.4(PLEKHM2):c.2303C>T (p.Pro768Leu)
NM_015164.4(PLEKHM2):c.2316C>T (p.Ile772=) rs772431603
NM_015164.4(PLEKHM2):c.2320A>G (p.Lys774Glu) rs1553161495
NM_015164.4(PLEKHM2):c.2335C>T (p.His779Tyr)
NM_015164.4(PLEKHM2):c.2381C>T (p.Thr794Met)
NM_015164.4(PLEKHM2):c.2382G>A (p.Thr794=) rs1455349103
NM_015164.4(PLEKHM2):c.2388C>T (p.Phe796=)
NM_015164.4(PLEKHM2):c.2399+7G>A
NM_015164.4(PLEKHM2):c.2400-10_2400-9delinsAA
NM_015164.4(PLEKHM2):c.2400-12G>T
NM_015164.4(PLEKHM2):c.2400-17G>T
NM_015164.4(PLEKHM2):c.2400-20C>T
NM_015164.4(PLEKHM2):c.2400-6del rs770328618
NM_015164.4(PLEKHM2):c.2402A>G (p.Asn801Ser)
NM_015164.4(PLEKHM2):c.2403C>T (p.Asn801=) rs1232641899
NM_015164.4(PLEKHM2):c.240C>A (p.Ile80=)
NM_015164.4(PLEKHM2):c.240C>T (p.Ile80=)
NM_015164.4(PLEKHM2):c.241G>C (p.Glu81Gln)
NM_015164.4(PLEKHM2):c.2423C>T (p.Pro808Leu)
NM_015164.4(PLEKHM2):c.2427C>T (p.Asp809=)
NM_015164.4(PLEKHM2):c.2429G>A (p.Arg810His)
NM_015164.4(PLEKHM2):c.2443C>T (p.Pro815Ser)
NM_015164.4(PLEKHM2):c.2464G>A (p.Gly822Arg)
NM_015164.4(PLEKHM2):c.2465+11C>T
NM_015164.4(PLEKHM2):c.2465+12G>C rs370100069
NM_015164.4(PLEKHM2):c.2465+12G>T
NM_015164.4(PLEKHM2):c.2465+20C>T
NM_015164.4(PLEKHM2):c.2465+9C>T rs375736292
NM_015164.4(PLEKHM2):c.2466-14C>G
NM_015164.4(PLEKHM2):c.2466-14C>T
NM_015164.4(PLEKHM2):c.2466-19C>T rs768958069
NM_015164.4(PLEKHM2):c.2466G>C (p.Gly822=) rs201370265
NM_015164.4(PLEKHM2):c.2466G>T (p.Gly822=) rs201370265
NM_015164.4(PLEKHM2):c.2467G>C (p.Gly823Arg)
NM_015164.4(PLEKHM2):c.2474A>C (p.Gln825Pro) rs1557663567
NM_015164.4(PLEKHM2):c.2475G>C (p.Gln825His)
NM_015164.4(PLEKHM2):c.2489G>A (p.Arg830Gln)
NM_015164.4(PLEKHM2):c.248T>C (p.Leu83Pro) rs2148357780
NM_015164.4(PLEKHM2):c.2499C>A (p.Asn833Lys)
NM_015164.4(PLEKHM2):c.2504C>T (p.Thr835Met)
NM_015164.4(PLEKHM2):c.2505G>A (p.Thr835=) rs771760241
NM_015164.4(PLEKHM2):c.2514C>T (p.Pro838=)
NM_015164.4(PLEKHM2):c.2539G>A (p.Asp847Asn) rs774711874
NM_015164.4(PLEKHM2):c.2539G>C (p.Asp847His)
NM_015164.4(PLEKHM2):c.2541C>G (p.Asp847Glu) rs1208216470
NM_015164.4(PLEKHM2):c.2543G>A (p.Arg848Gln) rs376748082
NM_015164.4(PLEKHM2):c.2543G>T (p.Arg848Leu) rs376748082
NM_015164.4(PLEKHM2):c.2557C>T (p.Leu853=)
NM_015164.4(PLEKHM2):c.2565C>G (p.Ala855=)
NM_015164.4(PLEKHM2):c.2565C>T (p.Ala855=) rs368018228
NM_015164.4(PLEKHM2):c.2573A>C (p.Glu858Ala)
NM_015164.4(PLEKHM2):c.2576C>G (p.Ala859Gly) rs1390978555
NM_015164.4(PLEKHM2):c.2577C>G (p.Ala859=) rs369860859
NM_015164.4(PLEKHM2):c.2577C>T (p.Ala859=) rs369860859
NM_015164.4(PLEKHM2):c.258G>A (p.Val86=) rs2148357794
NM_015164.4(PLEKHM2):c.2593A>T (p.Met865Leu)
NM_015164.4(PLEKHM2):c.2594T>G (p.Met865Arg)
NM_015164.4(PLEKHM2):c.25C>G (p.Arg9Gly)
NM_015164.4(PLEKHM2):c.2614G>T (p.Val872Leu) rs868336310
NM_015164.4(PLEKHM2):c.2616G>A (p.Val872=) rs2148380688
NM_015164.4(PLEKHM2):c.2620A>G (p.Lys874Glu) rs970061065
NM_015164.4(PLEKHM2):c.2639G>A (p.Gly880Asp)
NM_015164.4(PLEKHM2):c.2677C>A (p.Leu893Ile) rs1249701724
NM_015164.4(PLEKHM2):c.2679C>A (p.Leu893=) rs1465061757
NM_015164.4(PLEKHM2):c.268C>G (p.Leu90Val)
NM_015164.4(PLEKHM2):c.268C>T (p.Leu90=) rs2148357807
NM_015164.4(PLEKHM2):c.2713T>G (p.Cys905Gly) rs372585673
NM_015164.4(PLEKHM2):c.2721C>G (p.Thr907=) rs1365528829
NM_015164.4(PLEKHM2):c.2742C>A (p.Gly914=)
NM_015164.4(PLEKHM2):c.2747C>T (p.Ala916Val) rs536599433
NM_015164.4(PLEKHM2):c.2756G>A (p.Gly919Asp)
NM_015164.4(PLEKHM2):c.2756del (p.Gly919fs) rs774574426
NM_015164.4(PLEKHM2):c.275G>A (p.Arg92His)
NM_015164.4(PLEKHM2):c.2769C>T (p.Ala923=)
NM_015164.4(PLEKHM2):c.2784G>A (p.Pro928=)
NM_015164.4(PLEKHM2):c.2800G>A (p.Val934Ile)
NM_015164.4(PLEKHM2):c.2801T>A (p.Val934Asp)
NM_015164.4(PLEKHM2):c.2805+14G>A
NM_015164.4(PLEKHM2):c.2805+18dup rs761803250
NM_015164.4(PLEKHM2):c.2805+3G>A rs537871625
NM_015164.4(PLEKHM2):c.2806-11G>T
NM_015164.4(PLEKHM2):c.2806-15C>A
NM_015164.4(PLEKHM2):c.2806-16G>C
NM_015164.4(PLEKHM2):c.2806-20G>A rs367978433
NM_015164.4(PLEKHM2):c.2806-20G>C rs367978433
NM_015164.4(PLEKHM2):c.2806-6C>T
NM_015164.4(PLEKHM2):c.280C>T (p.Arg94Cys)
NM_015164.4(PLEKHM2):c.2816A>T (p.Gln939Leu) rs1170562546
NM_015164.4(PLEKHM2):c.2832C>T (p.Leu944=)
NM_015164.4(PLEKHM2):c.284C>G (p.Ala95Gly)
NM_015164.4(PLEKHM2):c.2852A>G (p.Tyr951Cys) rs1553161749
NM_015164.4(PLEKHM2):c.2853C>T (p.Tyr951=)
NM_015164.4(PLEKHM2):c.2861G>C (p.Cys954Ser)
NM_015164.4(PLEKHM2):c.2866T>C (p.Ser956Pro)
NM_015164.4(PLEKHM2):c.2890G>T (p.Ala964Ser) rs1571076902
NM_015164.4(PLEKHM2):c.2902G>A (p.Gly968Arg)
NM_015164.4(PLEKHM2):c.2902G>C (p.Gly968Arg)
NM_015164.4(PLEKHM2):c.291_292inv (p.Tyr98His)
NM_015164.4(PLEKHM2):c.2922+1_2922+3del
NM_015164.4(PLEKHM2):c.2923-14A>G
NM_015164.4(PLEKHM2):c.2923-5C>T
NM_015164.4(PLEKHM2):c.2923-8C>T rs1208345345
NM_015164.4(PLEKHM2):c.2935C>A (p.His979Asn) rs756795422
NM_015164.4(PLEKHM2):c.2935C>T (p.His979Tyr)
NM_015164.4(PLEKHM2):c.2940G>A (p.Thr980=)
NM_015164.4(PLEKHM2):c.2946C>T (p.Ile982=)
NM_015164.4(PLEKHM2):c.2957C>G (p.Ser986Cys)
NM_015164.4(PLEKHM2):c.2961C>T (p.Asn987=) rs189025469
NM_015164.4(PLEKHM2):c.2962A>G (p.Lys988Glu) rs2148383647
NM_015164.4(PLEKHM2):c.2963del (p.Lys988fs) rs753628124
NM_015164.4(PLEKHM2):c.2964GAA[1] (p.Lys990del) rs766206014
NM_015164.4(PLEKHM2):c.3013A>G (p.Ser1005Gly)
NM_015164.4(PLEKHM2):c.3013A>T (p.Ser1005Cys)
NM_015164.4(PLEKHM2):c.3016G>A (p.Asp1006Asn)
NM_015164.4(PLEKHM2):c.3018C>G (p.Asp1006Glu)
NM_015164.4(PLEKHM2):c.301C>A (p.Leu101Ile)
NM_015164.4(PLEKHM2):c.3020G>A (p.Ser1007Asn) rs933542967
NM_015164.4(PLEKHM2):c.3028C>T (p.Arg1010Cys)
NM_015164.4(PLEKHM2):c.3030C>T (p.Arg1010=)
NM_015164.4(PLEKHM2):c.3048C>T (p.Asp1016=)
NM_015164.4(PLEKHM2):c.3051C>T (p.Pro1017=)
NM_015164.4(PLEKHM2):c.316T>C (p.Leu106=)
NM_015164.4(PLEKHM2):c.346A>G (p.Asn116Asp) rs2148358906
NM_015164.4(PLEKHM2):c.366G>C (p.Lys122Asn) rs1315618796
NM_015164.4(PLEKHM2):c.377+12G>A rs761621510
NM_015164.4(PLEKHM2):c.377+15C>T
NM_015164.4(PLEKHM2):c.377+19C>G rs2148358955
NM_015164.4(PLEKHM2):c.378-4G>A rs1486385194
NM_015164.4(PLEKHM2):c.383C>G (p.Ala128Gly) rs2148359540
NM_015164.4(PLEKHM2):c.390C>T (p.Val130=) rs1641493459
NM_015164.4(PLEKHM2):c.394A>C (p.Ser132Arg)
NM_015164.4(PLEKHM2):c.406C>G (p.Leu136Val)
NM_015164.4(PLEKHM2):c.416T>C (p.Phe139Ser) rs1641494441
NM_015164.4(PLEKHM2):c.424T>C (p.Leu142=)
NM_015164.4(PLEKHM2):c.433G>A (p.Gly145Arg) rs867582918
NM_015164.4(PLEKHM2):c.438A>T (p.Leu146=) rs1571053374
NM_015164.4(PLEKHM2):c.448C>G (p.Arg150Gly)
NM_015164.4(PLEKHM2):c.460G>C (p.Asp154His)
NM_015164.4(PLEKHM2):c.465+14G>A
NM_015164.4(PLEKHM2):c.465+3G>A
NM_015164.4(PLEKHM2):c.466G>T (p.Asp156Tyr) rs1206630127
NM_015164.4(PLEKHM2):c.50C>T (p.Ser17Leu) rs1385246324
NM_015164.4(PLEKHM2):c.519G>A (p.Gln173=) rs2148361019
NM_015164.4(PLEKHM2):c.542G>A (p.Arg181His)
NM_015164.4(PLEKHM2):c.551G>C (p.Ser184Thr)
NM_015164.4(PLEKHM2):c.55AAG[1] (p.Lys20del) rs745635006
NM_015164.4(PLEKHM2):c.597C>T (p.Ser199=)
NM_015164.4(PLEKHM2):c.60+14C>T
NM_015164.4(PLEKHM2):c.60+18C>T
NM_015164.4(PLEKHM2):c.607A>G (p.Thr203Ala)
NM_015164.4(PLEKHM2):c.61-10T>C rs1040245938
NM_015164.4(PLEKHM2):c.61-15T>G
NM_015164.4(PLEKHM2):c.61-16T>G rs909373092
NM_015164.4(PLEKHM2):c.61-17G>C
NM_015164.4(PLEKHM2):c.61-19GT[3]
NM_015164.4(PLEKHM2):c.61-7_61-6del rs367663991
NM_015164.4(PLEKHM2):c.61-8del rs3830503
NM_015164.4(PLEKHM2):c.61-8dup
NM_015164.4(PLEKHM2):c.638C>G (p.Ala213Gly) rs2067967505
NM_015164.4(PLEKHM2):c.646A>G (p.Ser216Gly) rs374683119
NM_015164.4(PLEKHM2):c.652+10C>T
NM_015164.4(PLEKHM2):c.652+11C>G rs2148361251
NM_015164.4(PLEKHM2):c.652+13A>G
NM_015164.4(PLEKHM2):c.652+16G>A
NM_015164.4(PLEKHM2):c.653-10G>C rs570990579
NM_015164.4(PLEKHM2):c.655T>C (p.Tyr219His)
NM_015164.4(PLEKHM2):c.667G>T (p.Asp223Tyr)
NM_015164.4(PLEKHM2):c.680C>T (p.Ala227Val)
NM_015164.4(PLEKHM2):c.681A>C (p.Ala227=)
NM_015164.4(PLEKHM2):c.683T>C (p.Val228Ala)
NM_015164.4(PLEKHM2):c.703G>C (p.Asp235His) rs1553160375
NM_015164.4(PLEKHM2):c.709G>A (p.Glu237Lys)
NM_015164.4(PLEKHM2):c.713-14C>T
NM_015164.4(PLEKHM2):c.713A>G (p.Asp238Gly) rs2068048289
NM_015164.4(PLEKHM2):c.731C>T (p.Thr244Met)
NM_015164.4(PLEKHM2):c.745dup (p.Arg249fs) rs2148368648
NM_015164.4(PLEKHM2):c.75T>G (p.Phe25Leu) rs1161377740
NM_015164.4(PLEKHM2):c.762C>A (p.Asp254Glu)
NM_015164.4(PLEKHM2):c.766A>G (p.Thr256Ala)
NM_015164.4(PLEKHM2):c.779C>G (p.Ala260Gly)
NM_015164.4(PLEKHM2):c.781_784dup (p.Thr262fs) rs2148368750
NM_015164.4(PLEKHM2):c.794C>T (p.Pro265Leu)
NM_015164.4(PLEKHM2):c.798C>G (p.Thr266=)
NM_015164.4(PLEKHM2):c.820G>C (p.Glu274Gln) rs552932422
NM_015164.4(PLEKHM2):c.825G>A (p.Glu275=)
NM_015164.4(PLEKHM2):c.840G>T (p.Val280=)
NM_015164.4(PLEKHM2):c.843CTC[1] (p.Ser283del) rs2148368927
NM_015164.4(PLEKHM2):c.846C>T (p.Ser282=)
NM_015164.4(PLEKHM2):c.882G>C (p.Glu294Asp)
NM_015164.4(PLEKHM2):c.899C>A (p.Ala300Asp)
NM_015164.4(PLEKHM2):c.900C>T (p.Ala300=) rs2148369075
NM_015164.4(PLEKHM2):c.906C>T (p.Asp302=) rs1352230279
NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu) rs1422101821
NM_015164.4(PLEKHM2):c.909G>C (p.Pro303=)
NM_015164.4(PLEKHM2):c.90T>C (p.Asp30=)
NM_015164.4(PLEKHM2):c.913G>A (p.Asp305Asn)
NM_015164.4(PLEKHM2):c.916G>A (p.Ala306Thr)
NM_015164.4(PLEKHM2):c.925G>A (p.Glu309Lys)
NM_015164.4(PLEKHM2):c.93G>C (p.Glu31Asp)
NM_015164.4(PLEKHM2):c.941+4A>T rs1571063613
NM_015164.4(PLEKHM2):c.942-14C>T
NM_015164.4(PLEKHM2):c.980G>T (p.Ser327Ile)
NM_015164.4(PLEKHM2):c.98C>G (p.Pro33Arg) rs760374432
NM_015164.4(PLEKHM2):c.991G>C (p.Glu331Gln)

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